Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

CONTEXT: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical featur...

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Bibliografiska uppgifter
I publikationen:J Clin Endocrinol Metab
Huvudupphovsmän: Guran, Tulay, Buonocore, Federica, Saka, Nurcin, Ozbek, Mehmet Nuri, Aycan, Zehra, Bereket, Abdullah, Bas, Firdevs, Darcan, Sukran, Bideci, Aysun, Guven, Ayla, Demir, Korcan, Akinci, Aysehan, Buyukinan, Muammer, Aydin, Banu Kucukemre, Turan, Serap, Agladioglu, Sebahat Yilmaz, Atay, Zeynep, Abali, Zehra Yavas, Tarim, Omer, Catli, Gonul, Yuksel, Bilgin, Akcay, Teoman, Yildiz, Metin, Ozen, Samim, Doger, Esra, Demirbilek, Huseyin, Ucar, Ahmet, Isik, Emregul, Ozhan, Bayram, Bolu, Semih, Ozgen, Ilker Tolga, Suntharalingham, Jenifer P., Achermann, John C.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Endocrine Society 2016
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Original Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4701852/
https://ncbi.nlm.nih.gov/pubmed/26523528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2015-3250
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